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Related Experiment Videos

Human alpha-L-fucosidase: complete coding sequence from cDNA clones.

T Occhiodoro1, K R Beckmann, C P Morris

  • 1Department of Chemical Pathology, Adelaide Medical Centre for Women and Children, South Australia.

Biochemical and Biophysical Research Communications
|October 16, 1989
PubMed
Summary
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Researchers isolated human alpha-L-fucosidase cDNA, crucial for treating fucosidosis, a lysosomal storage disorder. This provides a foundation for understanding and potentially treating this genetic condition.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Fucosidosis is a human lysosomal storage disorder.
  • It stems from a deficiency in alpha-L-fucosidase, a vital enzyme.
  • This enzyme breaks down oligosaccharides containing alpha-L-fucosides.

Purpose of the Study:

  • To isolate and characterize cDNA clones encoding human alpha-L-fucosidase.
  • To determine the complete nucleotide sequence of the alpha-L-fucosidase gene.
  • To analyze the protein structure, including the signal peptide and mature protein components.

Main Methods:

  • Isolation of cDNA clones from human liver, placenta, and colon using lambda gt10 and lambda gt11 libraries.
  • Compilation and analysis of nucleotide sequences.

Related Experiment Videos

  • Identification of the open reading frame and deduced amino acid sequence.

    • Main Results:

    • Successfully isolated cDNA clones for human alpha-L-fucosidase.
    • Determined a complete nucleotide sequence of 2053 base pairs.
    • Identified an open reading frame encoding 461 amino acids, including a 22-amino acid signal peptide and a 439-amino acid mature protein.

    Conclusions:

    • The isolated cDNA sequence provides the genetic blueprint for human alpha-L-fucosidase.
    • This molecular information is essential for understanding the basis of fucosidosis.
    • The findings pave the way for potential gene therapy or enzyme replacement strategies.